Incidental Mutation 'IGL02996:Syt4'
ID407147
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Syt4
Ensembl Gene ENSMUSG00000024261
Gene Namesynaptotagmin IV
Synonyms
Accession Numbers

Genbank: NM_009308; MGI: 101759  

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02996
Quality Score
Status
Chromosome18
Chromosomal Location31437808-31447415 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 31444146 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 52 (K52E)
Ref Sequence ENSEMBL: ENSMUSP00000025110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025110]
Predicted Effect probably damaging
Transcript: ENSMUST00000025110
AA Change: K52E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025110
Gene: ENSMUSG00000024261
AA Change: K52E

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
low complexity region 68 79 N/A INTRINSIC
low complexity region 137 150 N/A INTRINSIC
C2 169 273 1.5e-19 SMART
C2 303 417 3.5e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181067
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene belongs to the synaptotagmin family. Members of this family are multi-domained, integral membrane proteins of synaptic vesicles, and are thought to serve as Ca2+ sensors in the process of vesicular trafficking and exocytosis. This gene is primarily expressed in the nervous tissues. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impairments in motor coordination, contextual fear conditioning, and social transmission of food preference. [provided by MGI curators]
Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
B4galnt1 C T 10: 127,167,003 R130W probably damaging Het
Cd200r3 T C 16: 44,954,317 L231P probably damaging Het
Cd200r4 C A 16: 44,833,033 N55K probably benign Het
Cyb561d1 C T 3: 108,199,645 R86Q probably damaging Het
Dst T C 1: 34,188,398 S1869P possibly damaging Het
Dusp6 T C 10: 99,264,766 V208A possibly damaging Het
Dync2h1 A T 9: 6,935,279 V4248E probably damaging Het
Exoc6b T A 6: 84,908,213 D248V probably benign Het
Fat4 A C 3: 38,958,525 D2323A probably damaging Het
Fbxo6 T C 4: 148,146,891 Y144C probably damaging Het
Gm7334 C A 17: 50,699,056 N123K possibly damaging Het
Large2 T C 2: 92,365,928 H518R possibly damaging Het
March4 G A 1: 72,428,899 Q325* probably null Het
Mccc2 C A 13: 99,960,979 probably benign Het
Mical3 T C 6: 120,958,558 D1669G probably damaging Het
Mkrn2 T C 6: 115,611,907 F204L probably benign Het
Olfr59 T C 11: 74,289,165 V173A probably benign Het
Olfr943 A G 9: 39,185,065 R293G probably damaging Het
Pkn3 A G 2: 30,080,615 D148G probably benign Het
Ppef2 C T 5: 92,235,900 W450* probably null Het
Rwdd1 G T 10: 34,002,516 Q108K probably damaging Het
Senp3 T C 11: 69,674,260 E496G probably damaging Het
St6gal1 T A 16: 23,321,154 V25E probably damaging Het
Tap1 C A 17: 34,191,396 A349E probably damaging Het
Tfr2 T A 5: 137,583,466 M605K probably benign Het
Tmem192 A G 8: 64,968,790 probably null Het
Trf T C 9: 103,220,903 E52G probably benign Het
Ttn A G 2: 76,726,187 V30158A probably damaging Het
Unc5a A G 13: 54,996,178 E152G probably damaging Het
Vmn2r57 T A 7: 41,399,741 K861N probably benign Het
Other mutations in Syt4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00971:Syt4 APN 18 31447174 utr 5 prime probably benign
IGL01476:Syt4 APN 18 31441643 missense probably damaging 1.00
IGL02412:Syt4 APN 18 31443843 missense probably benign 0.19
IGL02550:Syt4 APN 18 31444193 missense probably damaging 1.00
F6893:Syt4 UTSW 18 31444221 missense possibly damaging 0.74
R0103:Syt4 UTSW 18 31447220 start gained probably benign
R0526:Syt4 UTSW 18 31443746 missense possibly damaging 0.95
R1122:Syt4 UTSW 18 31440202 missense probably damaging 1.00
R1622:Syt4 UTSW 18 31444016 missense probably damaging 1.00
R1786:Syt4 UTSW 18 31443443 splice site probably benign
R1895:Syt4 UTSW 18 31444088 missense probably damaging 1.00
R2114:Syt4 UTSW 18 31440467 missense probably damaging 1.00
R2117:Syt4 UTSW 18 31440467 missense probably damaging 1.00
R2655:Syt4 UTSW 18 31443544 missense probably benign 0.01
R3079:Syt4 UTSW 18 31441685 missense probably benign 0.08
R3730:Syt4 UTSW 18 31444136 missense probably damaging 0.96
R4870:Syt4 UTSW 18 31447356 start gained probably benign
Y5404:Syt4 UTSW 18 31443791 missense probably damaging 1.00
Posted On2016-08-02